Canonical Allele Identifier: CA375506013

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138661880T>C (hg19) ; chr9:g.135770034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770034T>C , CM000671.2:g.135770034T>C	GRCh38
NC_000009.11:g.138661880T>C , CM000671.1:g.138661880T>C	GRCh37
NC_000009.10:g.137801701T>C	NCBI36
NG_033070.1:g.72850T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1598T>C MANE Select	ENSP00000360822.2:p.Leu533Pro
ENST00000674572.1:c.1439T>C	ENSP00000501742.1:p.Leu480Pro
ENST00000675090.1:c.1346T>C	ENSP00000501833.1:p.Leu449Pro
ENST00000675399.1:c.1346T>C	ENSP00000501932.1:p.Leu449Pro
ENST00000676421.1:c.1355T>C	ENSP00000502322.1:p.Leu452Pro
ENST00000263604.5:c.1499T>C	ENSP00000263604.4:p.Leu500Pro
ENST00000371757.6:c.1598T>C	ENSP00000360822.2:p.Leu533Pro
ENST00000460750.5:c.*1208T>C	ENSP00000418777.1:n.*1208T>C
ENST00000486577.6:c.1481T>C	ENSP00000417578.3:p.Leu494Pro
ENST00000487664.5:c.1598T>C	ENSP00000417851.2:p.Leu533Pro
ENST00000488444.6:c.1541T>C	ENSP00000419007.3:p.Leu514Pro
ENST00000490355.6:c.1541T>C	ENSP00000418003.3:p.Leu514Pro
ENST00000490363.3:n.1417T>C
ENST00000491806.6:c.1541T>C	ENSP00000419086.3:p.Leu514Pro
ENST00000628528.2:c.1463T>C	ENSP00000486374.1:p.Leu488Pro
ENST00000630792.2:c.1439T>C	ENSP00000486486.1:p.Leu480Pro
ENST00000631073.2:c.1541T>C	ENSP00000486130.1:p.Leu514Pro
NM_001272003.1:c.1463T>C	NP_001258932.1:p.Leu488Pro
NM_020822.2:c.1598T>C	NP_065873.2:p.Leu533Pro
XM_011518877.1:c.1733T>C	XP_011517179.1:p.Leu578Pro
XM_011518878.1:c.1742T>C	XP_011517180.1:p.Leu581Pro
XM_011518879.1:c.1733T>C	XP_011517181.1:p.Leu578Pro
XM_011518880.1:c.1499T>C	XP_011517182.1:p.Leu500Pro
XM_011518881.1:c.1088T>C	XP_011517183.1:p.Leu363Pro
XM_011518877.3:c.1733T>C	XP_011517179.1:p.Leu578Pro
XM_011518878.3:c.1742T>C	XP_011517180.1:p.Leu581Pro
XM_011518879.3:c.1733T>C	XP_011517181.1:p.Leu578Pro
XM_011518881.3:c.1088T>C	XP_011517183.1:p.Leu363Pro
XM_017014931.1:c.1532T>C	XP_016870420.1:p.Leu511Pro
XM_017014932.1:c.1355T>C	XP_016870421.1:p.Leu452Pro
XM_017014933.1:c.1088T>C	XP_016870422.1:p.Leu363Pro
XM_024447617.1:c.1088T>C	XP_024303385.1:p.Leu363Pro
XM_024447618.1:c.1088T>C	XP_024303386.1:p.Leu363Pro
NM_020822.3:c.1598T>C MANE Select	NP_065873.2:p.Leu533Pro
NM_001272003.2:c.1463T>C	NP_001258932.1:p.Leu488Pro